Takashi Matsukawa

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura et al. · Nature Genetics · 2019 · 424 citations

Oculopharyngodistal Myopathy, Autoimmune Disease, Neurological Disorder +10

Genomic Landscape of Esophageal Squamous Cell Carcinoma in a Japanese Population

Genta Sawada, Atsushi Niida, Ryutaro Uchi et al. · Gastroenterology · 2016 · 332 citations · Full text

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui et al. · Nature Genetics · 2018 · 323 citations

Medicine, Neuroscience, Neuropathology +3

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

Yuji Takahashi, Y. Fukuda, Jun Yoshimura et al. · The American Journal of Human Genetics · 2013 · 143 citations · Full text

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Erbb4 Mutations +6

Variants associated with Gaucher disease in multiple system atrophy

Jun Mitsui, Takashi Matsukawa, Hidenao Sasaki et al. · Annals of Clinical and Translational Neurology · 2015 · 101 citations · Full text